Clinical features of late-onset Pompe disease: a prospective cohort study.
Wokke, John H J; Escolar, Diana M; Pestronk, Alan; Jaffe, Kenneth M; Carter, Gregory T; van den Berg, Leonard H; Florence, Julaine M; Mayhew, Jill; Skrinar, Alison; Corzo, Deyanira; Laforet, Pascal.
; 38(4): 1236-45, 2008 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-18816591
Clinical features of Pompe disease.
Familial Pompe Disease.
Practical Recommendations for Diagnosis and Management of Respiratory Muscle Weakness in Late-Onset Pompe Disease.
Next generation deep sequencing corrects diagnostic pitfalls of traditional molecular approach in a patient with prenatal onset of Pompe disease.
Familial adult-onset Pompe disease associated with unusual clinical and histological features.
Quantitative assessment of lingual strength in late-onset Pompe disease.
LOPED study: looking for an early diagnosis in a late-onset Pompe disease high-risk population.
Expanding the phenotype of late-onset Pompe disease: tongue weakness: a new clinical observation.
Late-onset pompe disease in Iran: A clinical and genetic report.
Severely impaired health status at diagnosis of Pompe disease: a cross-sectional analysis to explore the potential utility of neonatal screening.